A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14378739



Internal ID22325526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:31605446..31605752hg38UCSC Ensembl
chr17:29932465..29932771hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38307
hg19307
Variant TypeCNV alu deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3521918
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsAbsence of a ALUYA5 mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14378739
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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